Canonical Allele Identifier: CA1345068811

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144762_10144764delinsTAA , CM000665.2:g.10144762_10144764delinsTAA	GRCh38
NC_000003.11:g.10186446_10186448delinsTAA , CM000665.1:g.10186446_10186448delinsTAA	GRCh37
NC_000003.10:g.10161446_10161448delinsTAA	NCBI36
NG_008212.3:g.8128_8130delinsTAA , LRG_322:g.8128_8130delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1741_*17+1743delinsTAA	ENSP00000512434.1:n.*17+1741_*17+1743delinsTAA
ENST00000696143.1:c.599+1741_599+1743delinsTAA	ENSP00000512435.1:n.599+1741_599+1743delinsTAA
ENST00000696153.1:c.341-1752_341-1750delinsTAA	ENSP00000512444.1:n.341-1752_341-1750delinsTAA
ENST00000256474.3:c.341-1752_341-1750delinsTAA MANE Select	ENSP00000256474.3:n.341-1752_341-1750delinsTAA
ENST00000256474.2:c.341-1752_341-1750delinsTAA	ENSP00000256474.2:n.341-1752_341-1750delinsTAA
ENST00000345392.2:c.340+2575_340+2577delinsTAA	ENSP00000344757.2:n.340+2575_340+2577delinsTAA
ENST00000477538.1:n.476+1741_476+1743delinsTAA
NM_000551.3:c.341-1752_341-1750delinsTAA , LRG_322t1:c.341-1752_341-1750delinsTAA	NP_000542.1:n.341-1752_341-1750delinsTAA
NM_198156.2:c.340+2575_340+2577delinsTAA	NP_937799.1:n.340+2575_340+2577delinsTAA
XM_011534078.1:c.*17+1741_*17+1743delinsTAA	XP_011532380.1:n.*17+1741_*17+1743delinsTAA
NM_001354723.1:c.*17+1741_*17+1743delinsTAA	NP_001341652.1:n.*17+1741_*17+1743delinsTAA
NM_000551.4:c.341-1752_341-1750delinsTAA MANE Select	NP_000542.1:n.341-1752_341-1750delinsTAA
NM_001354723.2:c.*17+1741_*17+1743delinsTAA	NP_001341652.1:n.*17+1741_*17+1743delinsTAA
NM_198156.3:c.340+2575_340+2577delinsTAA	NP_937799.1:n.340+2575_340+2577delinsTAA